網膜色素変性症

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000329.3(RPE65):c.1451-2A>C	RPE65	Likely pathogenic	1	68895612	68895612	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu)	ABCA4	Pathogenic	1	94497392	94497392	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000322.5(PRPH2):c.331del (p.Ile111fs)	PRPH2	Pathogenic/Likely pathogenic	6	42689742	42689742	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)	EYS	Pathogenic/Likely pathogenic	6	64431148	64431148	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.3878-2A>G	EYS	Likely pathogenic	6	65301884	65301884	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004183.4(BEST1):c.247+2del	BEST1	Pathogenic/Likely pathogenic	11	61722675	61722675	GT	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)	RPGR	Pathogenic/Likely pathogenic	X	38145352	38145353	T	TC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000539.3(RHO):c.218A>G (p.Asn73Ser)	RHO	Pathogenic	3	129247794	129247794	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000539.3(RHO):c.302G>T (p.Gly101Val)	RHO	Pathogenic	3	129247878	129247878	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000539.3(RHO):c.538C>A (p.Pro180Thr)	RHO	Likely pathogenic	3	129251101	129251101	C	A	criteria provided, single submitter	-